Hereditary papillary renal cancer

Hereditary Papillary Renal Cancer

Hereditary Papillary Renal Cancer (HPRC) is a genetic condition characterized by the development of multiple papillary renal cell carcinomas in the kidneys. It is an autosomal dominant disorder, meaning that a mutation in just one of the two copies of the responsible gene is sufficient to increase the risk of developing the disease.

Genetics

HPRC is primarily associated with mutations in the MET proto-oncogene. The MET gene provides instructions for making a protein that is involved in signaling pathways that control cell growth and division. Mutations in this gene can lead to uncontrolled cell proliferation, contributing to the development of papillary renal cell carcinoma.

The condition follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the mutated gene to each of their offspring.

Clinical Features

Individuals with HPRC typically develop multiple, bilateral papillary renal cell carcinomas. These tumors are often detected through imaging studies such as CT scans or MRIs performed for other reasons, as they may not cause symptoms until they are quite large.

The age of onset can vary, but tumors often develop in adulthood. Unlike some other hereditary cancer syndromes, HPRC is not associated with an increased risk of other types of cancer.

Diagnosis

Diagnosis of HPRC is based on clinical criteria, family history, and genetic testing. Genetic testing can confirm the presence of a mutation in the MET gene. Imaging studies are used to detect and monitor renal tumors.

Management

Management of HPRC involves regular surveillance of the kidneys to detect tumors early. This typically includes periodic imaging studies. Surgical intervention may be necessary if tumors reach a size where they pose a risk of metastasis or cause symptoms.

Partial nephrectomy, where only the tumor and a small margin of healthy tissue are removed, is often preferred to preserve kidney function. In some cases, targeted therapies that inhibit the MET pathway may be considered.

Prognosis

The prognosis for individuals with HPRC depends on the size and number of tumors, as well as the success of surgical interventions. Regular monitoring and early treatment of tumors can help manage the condition effectively.

Also see

• Renal cell carcinoma
• Von Hippel-Lindau disease
• Genetic counseling
• Cancer genetics